MCID: RNL100
MIFTS: 57

Renal Hypodysplasia/aplasia 1

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Fetal diseases

Aliases & Classifications for Renal Hypodysplasia/aplasia 1

MalaCards integrated aliases for Renal Hypodysplasia/aplasia 1:

Name: Renal Hypodysplasia/aplasia 1 53 71
Renal Agenesis 53 12 72 49 55 71 28 51 14
Renal Adysplasia 53 12 71 28 13 69
Renal Aplasia 53 12 71
Hereditary Renal Aplasia 53 12
Rhda1 53 71
Congenital Absence of Kidneys Syndrome 69
Hereditary Urogenital Adysplasia 12
Hereditary Renal Aplasia; Hra 53
Hra 53

Characteristics:

Orphanet epidemiological data:

55
renal agenesis
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
death in utero or in the perinatal period


HPO:

31
renal hypodysplasia/aplasia 1:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 191830
Disease Ontology 12 DOID:14766
Orphanet 55 ORPHA411709
UMLS via Orphanet 70 C1619700 C0542519 C1609433
ICD10 via Orphanet 33 Q60.0 Q60.1 Q60.2

Summaries for Renal Hypodysplasia/aplasia 1

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 411709Disease definitionRenal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively; see these terms), accompanied by absent ureter(s).EpidemiologyThe annual incidence of RA is estimated at around 1/2,000. Fetal prevalence of bilateral renal agenesis in Europe has been estimated at 1/8,500.Clinical descriptionMost patients with unilateral RA are asymptomatic if the other kidney is fully functional and the disease is commonly detected as a chance observation. However, hypertension, proteinuria and renal failure may develop in the long run (20-50% of cases at the age of 30). Unilateral RA is occasionally associated with genital tract anomalies on the same side (e.g. seminal vesicle hypoplasia and absence of the vas deferens), cardiac anomalies (such as atrial or ventricular septal defects) and/or gastrointestinal anomalies (such as anal atresia). Bilateral RA is characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.EtiologyRenal agenesis results from a developmental failure of the ureteric bud and the metanephric mesenchyme. Unilateral renal agenesis can be caused by mutations in many genes, such as RET (10q11.2), BMP4 (14q22-q23), FRAS1 (4q21.21), FREM1 (9p22.3), or UPK3A (22q13.31). A few cases of bilateral renal agenesis have been found to be caused by mutations in the RET, FGF20 (8p22) or ITGA8 (10p13) genes. Maternal diabetes mellitus or use of specific drugs during pregnancy can also result in renal agenesis.Genetic counselingIn familial cases, unilateral RA is inherited in an autosomal dominant manner with incomplete penetrance. Bilateral RA is inherited autosomal recessively.Visit the Orphanet disease page for more resources. Last updated: 7/1/2014

MalaCards based summary : Renal Hypodysplasia/aplasia 1, also known as renal agenesis, is related to renal agenesis, bilateral and renal agenesis, unilateral, and has symptoms including hypertelorism, low-set ears and hypertension. An important gene associated with Renal Hypodysplasia/aplasia 1 is ITGA8 (Integrin Subunit Alpha 8). The drugs Menthol and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include kidney, lung and eye, and related phenotypes are mortality/aging and cardiovascular system

OMIM : 53 Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD), and severe obstructive uropathy. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; 610805), and usually results in death in utero or in the perinatal period. Families have been documented in which bilateral renal agenesis or aplasia coexists with unilateral renal aplasia, renal dysplasia, or renal aplasia with renal dysplasia, suggesting that these conditions may belong to a pathogenic continuum or phenotypic spectrum (summary by Joss et al., 2003; Humbert et al., 2014). (191830)

UniProtKB/Swiss-Prot : 71 Renal hypodysplasia/aplasia 1: A perinatally lethal renal disease encompassing a spectrum of kidney development defects, including renal agenesis, bilateral renal aplasia, hypoplasia, (cystic) dysplasia, and severe obstructive uropathy.

Disease Ontology : 12 A renal disease that is characterized by the failure of one or both kidneys to develop.

Wikipedia : 72 Renal agenesis is a medical condition in which one (unilateral) or both (bilateral) fetal kidneys fail... more...

Related Diseases for Renal Hypodysplasia/aplasia 1

Diseases in the Renal Hypodysplasia/aplasia 1 family:

Renal Hypodysplasia/aplasia 2 Renal Hypodysplasia/aplasia 3

Diseases related to Renal Hypodysplasia/aplasia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 renal agenesis, bilateral 33.6 GREB1L ITGA8 RET
2 renal agenesis, unilateral 33.3 FRAS1 FREM1 FREM2 GREB1L RET
3 fraser syndrome 1 30.8 EYA1 FRAS1 FREM1 FREM2 FREM3 GRIP1
4 aniridia renal agenesis psychomotor retardation 12.2
5 jejunal atresia with renal adysplasia 12.1
6 renal adysplasia dominant type 12.1
7 bilateral renal aplasia 12.0
8 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis 11.9
9 aniridia, partial, with unilateral renal agenesis and psychomotor retardation 11.9
10 hirschsprung disease with polydactyly, renal agenesis, and deafness 11.9
11 microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs 11.9
12 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 11.9
13 bilateral renal agenesis dominant type 11.9
14 double uterus-hemivagina-renal agenesis 11.9
15 renal agenesis meningomyelocele mullerian defect 11.9
16 bifid nose with or without anorectal and renal anomalies 11.7
17 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 11.6
18 potter's syndrome 11.6
19 costello syndrome 11.5
20 congenital anomalies of kidney and urinary tract 2 11.3
21 santos mateus leal syndrome 11.2
22 kallmann syndrome 11.2
23 urogenital adysplasia 11.2
24 nevus, epidermal 10.9
25 renal hypodysplasia/aplasia 2 10.9
26 renal hypodysplasia/aplasia 3 10.9
27 medullary sponge kidney 10.5 GDNF RET
28 hypoganglionosis 10.5 GDNF RET
29 intestinal obstruction 10.3 CFTR GDNF RET
30 microphthalmia, syndromic 9 10.3 FRAS1 FREM2
31 renal dysplasia 10.3 GDNF PAX2 SALL1
32 papillorenal syndrome 10.3 EYA1 PAX2
33 anus, imperforate 10.2 GREB1L SALL1
34 diaphragmatic hernia, congenital 10.2 FRAS1 FREM1 FREM2
35 hemifacial microsomia 10.2 HOXA2 SALL1
36 branchiooculofacial syndrome 10.1 EYA1 SIX5
37 cryptophthalmos 10.1 FRAS1 FREM1 FREM2 GRIP1
38 chromosome 2q35 duplication syndrome 10.1 FRAS1 FREM1 FREM2 GRIP1
39 multiple endocrine neoplasia, type iib 10.1 GDNF RET
40 deafness, autosomal dominant 10 10.1 EYA1 PAX2 SIX5
41 squamous cell carcinoma 10.1
42 thyroiditis 10.0
43 phacomatosis pigmentokeratotica 10.0
44 chronic interstitial cystitis 10.0
45 bladder cancer 9.9
46 rhabdomyosarcoma 9.9
47 lacrimal duct obstruction 9.9 EYA1 SIX5
48 vaginitis 9.9
49 vaginal atresia 9.9
50 embryonal rhabdomyosarcoma 9.9

Graphical network of the top 20 diseases related to Renal Hypodysplasia/aplasia 1:



Diseases related to Renal Hypodysplasia/aplasia 1

Symptoms & Phenotypes for Renal Hypodysplasia/aplasia 1

Symptoms via clinical synopsis from OMIM:

53
SkeletalFeet:
talipes equinovarus
club feet

GenitourinaryKidneys:
renal agenesis
renal dysplasia
renal adysplasia

SkeletalHands:
spade-like hands

HeadAndNeckEars:
large, low-set ears
ears deficient in cartilage

GenitourinaryUreters:
ureteral aplasia

PrenatalManifestationsAmnioticFluid:
oligohydramnios
anhydramnios

HeadAndNeckFace:
potter facies
flattened nose
receding chin

RespiratoryLung:
lung hypoplasia

HeadAndNeckEyes:
wide-set eyes

GenitourinaryBladder:
bladder hypoplasia
bladder abnormalities


Clinical features from OMIM:

191830

Human phenotypes related to Renal Hypodysplasia/aplasia 1:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 low-set ears 31 HP:0000369
3 hypertension 31 HP:0000822
4 proteinuria 31 HP:0000093
5 retrognathia 31 HP:0000278
6 primary amenorrhea 31 HP:0000786
7 abnormality of the foot 31 HP:0001760
8 talipes equinovarus 31 HP:0001762
9 oligohydramnios 31 HP:0001562
10 renal agenesis 31 HP:0000104
11 pulmonary hypoplasia 31 HP:0002089
12 bicornuate uterus 31 HP:0000813
13 renal dysplasia 31 HP:0000110
14 vaginal atresia 31 HP:0000148
15 potter facies 31 HP:0002009

MGI Mouse Phenotypes related to Renal Hypodysplasia/aplasia 1:

43 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.28 FRAS1 CFTR FREM1 EYA1 FREM2 RET
2 cardiovascular system MP:0005385 10.25 FREM2 FRAS1 EYA1 HOXA2 GDNF GRIP1
3 growth/size/body region MP:0005378 10.24 FREM2 FRAS1 CFTR FREM1 EYA1 HOXA2
4 digestive/alimentary MP:0005381 10.18 FRAS1 CFTR FREM1 EYA1 RET HS2ST1
5 endocrine/exocrine gland MP:0005379 10.11 EYA1 CFTR FREM1 PAX2 HS2ST1 GDNF
6 nervous system MP:0003631 10.11 FREM2 FREM1 EYA1 HOXA2 HS2ST1 GDNF
7 renal/urinary system MP:0005367 10.1 FRAS1 FREM1 EYA1 FREM2 RET HS2ST1
8 craniofacial MP:0005382 10.08 FREM2 FRAS1 CFTR FREM1 EYA1 HOXA2
9 limbs/digits/tail MP:0005371 10 FREM2 FRAS1 FREM1 HS2ST1 GRIP1 RET
10 hearing/vestibular/ear MP:0005377 9.95 FREM2 EYA1 PAX2 HOXA2 ITGA8 SALL1
11 muscle MP:0005369 9.95 FREM2 FREM1 EYA1 HOXA2 GDNF RET
12 reproductive system MP:0005389 9.86 CFTR FREM1 EYA1 PAX2 FREM2 GDNF
13 respiratory system MP:0005388 9.76 FREM2 FRAS1 CFTR FREM1 EYA1 HOXA2
14 skeleton MP:0005390 9.56 EYA1 FRAS1 FREM1 HOXA2 FREM2 HS2ST1
15 vision/eye MP:0005391 9.28 FRAS1 CFTR FREM1 EYA1 FREM2 HS2ST1

Drugs & Therapeutics for Renal Hypodysplasia/aplasia 1

Drugs for Renal Hypodysplasia/aplasia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved 2216-51-5 16666
2 Anesthetics
3 Anesthetics, Local
4 Pharmaceutical Solutions

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Renal Agenesis Fetal Therapy Recruiting NCT03101891 Normal Saline, 0.9% injectable solution
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Renal Hypodysplasia/aplasia 1

Genetic Tests for Renal Hypodysplasia/aplasia 1

Genetic tests related to Renal Hypodysplasia/aplasia 1:

# Genetic test Affiliating Genes
1 Renal Adysplasia 28 ITGA8 PAX2 RET
2 Renal Agenesis 28

Anatomical Context for Renal Hypodysplasia/aplasia 1

MalaCards organs/tissues related to Renal Hypodysplasia/aplasia 1:

38
Kidney, Lung, Eye, Uterus

Publications for Renal Hypodysplasia/aplasia 1

Articles related to Renal Hypodysplasia/aplasia 1:

(show top 50) (show all 532)
# Title Authors Year
1
Myelomeningocele with Unilateral Right Renal Agenesis: A Case Report. ( 29321944 )
2018
2
A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans. ( 28739660 )
2017
3
Unilateral renal agenesis with subseptate uterus and sacrococcygeal teratoma: A unique triad. ( 29089677 )
2017
4
Ipsilateral Renal Agenesis With Megaureter, Blind End Proximal Ureter And Ureterocele In An Adult. ( 28712197 )
2017
5
Unilateral Blind Ending Ureter with Vesicoureteral Reflux and Associated Renal Agenesis -Multidetector Computed Tomography Imaging Findings. ( 27085570 )
2016
6
Pseudo-Exstrophy of Bladder with Unilateral Renal Agenesis: A Rare Combination of two Anomalies. ( 28208931 )
2016
7
A Case of Cryptorchidism with Ipsilateral Congenital Unilateral Absence of the Vas Deferens and Contralateral Renal Agenesis. ( 27597925 )
2016
8
The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL): Report of two additional patients. ( 27480277 )
2016
9
Familial tetrasomy 4q35.2 associated with congenital diaphragmatic hernia and unilateral renal agenesis: a case report. ( 27036947 )
2016
10
Uterus didelphys with unilateral obstructed hemivagina and haematocolpos with ipsilateral renal agenesis - a case report. ( 25725693 )
2015
11
Genetic etiology of renal agenesis: fine mapping of Renag1 and identification of Kit as the candidate functional gene. ( 25693193 )
2015
12
Obstructed hemivagina and ipsilateral renal agenesis (OHVIRA) syndrome should be redefined as ipsilateral renal anomalies: Cases of symptomatic atrophic and dysplastic kidney with ectopic ureter to obstructed hemivagina. ( 25797857 )
2015
13
Unilateral Branchial Sinus with Unilateral Renal Agenesis: A Variant of BOR Syndrome? A Case Report. ( 24533416 )
2014
14
Successful in utero intervention for bilateral renal agenesis. ( 25004316 )
2014
15
Complementary role of magnetic resonance imaging after ultrasound examination in assessing fetal renal agenesis: a case report. ( 24618008 )
2014
16
Seminal vesicle hypoplasia with contralateral renal agenesis. ( 25053522 )
2014
17
Perineal lipoma with accessory labioscrotal fold and penis-like phallus in a female infant with unilateral renal agenesis. ( 24857274 )
2014
18
Hernia of the bladder through the broad ligament with renal agenesis and ipsilateral ureter blind ending. ( 25422693 )
2014
19
Uterine Didelphys, Obstructed Hemivagina and Ipsilateral Renal Agenesis: Presentation and Management. ( 25014169 )
2014
20
Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans. ( 24439109 )
2014
21
Complete septate uterus, obstructed hemivagina, and ipsilateral adnexal and renal agenesis in pregnancy. ( 25105105 )
2014
22
Genomic and epigenomic analyses of monozygotic twins discordant for congenital renal agenesis. ( 24583054 )
2014
23
Congenital absence of the vas deferens and unilateral renal agenesis: implications for patient and family. ( 24879556 )
2014
24
Reproductive outcome in uterine malformations with or without an associated unilateral renal agenesis. ( 24597290 )
2014
25
Waardenburg Syndrome With Familial Unilateral Renal Agenesis: A New Syndrome Variant? ( 25402868 )
2014
26
Benign cystic mesothelioma associated with ipsilateral renal agenesis: a case report and review of literature. ( 25207989 )
2014
27
Renal Agenesis in Kallmann Syndrome: A Network Approach. ( 25227403 )
2014
28
Obstructed hemivagina and ipsilateral renal agenesis with intestinal malrotation. ( 23910815 )
2013
29
Seminoma Arising from Intra-abdominal Cryptorchidism with Ipsilateral Renal Agenesis: A Rare Association. ( 24426596 )
2013
30
Unilateral renal agenesis: a systematic review on associated anomalies and renal injury. ( 23449343 )
2013
31
Uterus didelphys with blind hemivagina and ipsilateral renal agenesis (Herlyn-Werner-Wunderlich syndrome) suspected on the presence of hydrocolpos on prenatal sonography. ( 22678931 )
2013
32
Laparoscopic colectomy for a patient with congenital renal agenesis. ( 24470854 )
2013
33
Seizure, deafness and renal agenesis: A rare case of barakat syndrome. ( 23661972 )
2013
34
Severe Pallister-Hall syndrome with persistent urogenital sinus, renal agenesis, imperforate anus, bilateral hypothalamic hamartomas, and severe skeletal anomalies. ( 23950073 )
2013
35
Rectovesical ligament and fusion defect of the uterus with or without obstructed hemivagina and ipsilateral renal agenesis. ( 23352619 )
2013
36
A MEN2A family with two asymptomatic carriers affected by unilateral renal agenesis. ( 24152999 )
2013
37
Laparoscopic adrenalectomy of a large pheochromocytoma in a multiple endocrine neoplasia-2A patient with renal agenesis. ( 23924484 )
2013
38
Renal outcome of children with unilateral renal agenesis. ( 24577979 )
2013
39
Unilateral uterine segmentary aplasia, papillary endometrial hyperplasia and ipsilateral renal agenesis in a cat. ( 23172697 )
2013
40
Duplicated uterus and hemivaginal or hemicervical atresia with ipsilateral renal agenesis: an institutional clinical series of 52 cases. ( 23928479 )
2013
41
Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome. ( 23401257 )
2013
42
Double uterus with obstructed hemivagina and ipsilateral renal agenesis: pelvic anatomic variants in 87 cases. ( 23532323 )
2013
43
Herlyn-Werner-Wuderlich syndrome: uterus didelphys and obstructed hemivagina with unilateral renal agenesis. ( 23484247 )
2013
44
True ectopic ovary in the right iliac fossa mimicking acute appendicitis and associated with ipsilateral renal agenesis. ( 24320118 )
2013
45
Pregnancies in women with uterine malformation, treated obstruction of hemivagina and ipsilateral renal agenesis. ( 23247278 )
2013
46
An abnormally large prostatic utricle cyst associated with unilateral renal agenesis. ( 23798876 )
2013
47
Femoral hypoplasia-unusual facies syndrome with renal agenesis and patent ductus arteriosus. ( 24341153 )
2013
48
Multicentric paraspinal neuroglial heterotopia with MA1llerian and renal agenesis: a variant of Mayer-Rokitansky-KA1ster-Hauser syndrome? ( 23968558 )
2013
49
OHVIRA: Uterus didelphys, blind hemivagina and ipsilateral renal agenesis: Advantage MRI. ( 22870020 )
2012
50
Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis. ( 21900877 )
2012

Variations for Renal Hypodysplasia/aplasia 1

UniProtKB/Swiss-Prot genetic disease variations for Renal Hypodysplasia/aplasia 1:

71
# Symbol AA change Variation ID SNP ID
1 ITGA8 p.Gly407Arg VAR_071107 rs374664941

ClinVar genetic disease variations for Renal Hypodysplasia/aplasia 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RET NM_020975.4(RET): c.2944C> T (p.Arg982Cys) single nucleotide variant risk factor rs17158558 GRCh37 Chromosome 10, 43620335: 43620335
2 RET NM_020975.4(RET): c.2410G> A (p.Val804Met) single nucleotide variant Pathogenic/Likely pathogenic rs79658334 GRCh37 Chromosome 10, 43614996: 43614996
3 RET NM_020975.5(RET): c.*1969T> C single nucleotide variant protective rs3026785 GRCh37 Chromosome 10, 43625686: 43625686
4 ITGA8 NM_003638.2(ITGA8): c.2982+2T> C single nucleotide variant Pathogenic rs587777279 GRCh37 Chromosome 10, 15573047: 15573047
5 ITGA8 NM_003638.2(ITGA8): c.1622_1626delAGGTG (p.Glu541Alafs) deletion Pathogenic rs587777280 GRCh37 Chromosome 10, 15649814: 15649818
6 ITGA8 NM_003638.2(ITGA8): c.1219G> A (p.Gly407Arg) single nucleotide variant Pathogenic rs374664941 GRCh37 Chromosome 10, 15686209: 15686209

Expression for Renal Hypodysplasia/aplasia 1

Search GEO for disease gene expression data for Renal Hypodysplasia/aplasia 1.

Pathways for Renal Hypodysplasia/aplasia 1

GO Terms for Renal Hypodysplasia/aplasia 1

Cellular components related to Renal Hypodysplasia/aplasia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 8.92 FRAS1 FREM1 FREM2 FREM3

Biological processes related to Renal Hypodysplasia/aplasia 1 according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.99 ANOS1 FREM1 FREM2 FREM3 ITGA8 RET
2 positive regulation of transcription, DNA-templated GO:0045893 9.98 EYA1 GRIP1 PAX2 RET SALL1
3 kidney development GO:0001822 9.71 GREB1L ITGA8 SALL1 SIX2
4 inner ear morphogenesis GO:0042472 9.7 EYA1 ITGA8 PAX2
5 cell communication GO:0007154 9.67 FRAS1 FREM1 FREM2 FREM3
6 ureteric bud development GO:0001657 9.62 EYA1 GDNF RET SALL1
7 neural crest cell migration GO:0001755 9.61 GDNF RET
8 cochlea morphogenesis GO:0090103 9.6 EYA1 PAX2
9 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.58 GDNF PAX2
10 middle ear morphogenesis GO:0042474 9.57 EYA1 SIX2
11 morphogenesis of an epithelium GO:0002009 9.56 FRAS1 FREM2
12 branching involved in ureteric bud morphogenesis GO:0001658 9.56 EYA1 GDNF PAX2 SALL1
13 enteric nervous system development GO:0048484 9.55 GDNF RET
14 outer ear morphogenesis GO:0042473 9.54 EYA1 SALL1
15 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0072108 9.49 GDNF PAX2
16 ureter maturation GO:0035799 9.48 PAX2 RET
17 positive regulation of metanephric glomerulus development GO:0072300 9.46 PAX2 RET
18 metanephros development GO:0001656 9.46 EYA1 GDNF ITGA8 SIX2
19 mesodermal cell fate specification GO:0007501 9.13 EYA1 PAX2 SIX2
20 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 8.92 GDNF PAX2 SALL1 SIX2
21 positive regulation of transcription by RNA polymerase II GO:0045944 10.07 EYA1 GDNF PAX2 SALL1 SIX2 SIX5
22 multicellular organism development GO:0007275 10.03 EYA1 FREM1 FREM2 HOXA2 ITGA8 PAX2

Sources for Renal Hypodysplasia/aplasia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....